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Functional Analysis of the Kv1.1 N255D Mutation Associated with Autosomal Dominant Hypomagnesemia
Mutations in the voltage-gated K(+) channel Kv1.1 have been linked with a mixed phenotype of episodic ataxia and/or myokymia. Recently, we presented autosomal dominant hypomagnesemia as a new phenotypic characteristic associated with a mutation in Kv1.1 (N255D) (Glaudemans, B., van der Wijst, J., Sc...
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| Glavni autori: | , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Society for Biochemistry and Molecular Biology
2010
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2804162/ https://ncbi.nlm.nih.gov/pubmed/19903818 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.041517 |
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